Sökning: "genetic polymorphisms"

Visar resultat 6 - 10 av 428 avhandlingar innehållade orden genetic polymorphisms.

  1. 6. Functional Role of Genetic Polymorphisms Associated with Systemic Lupus Erythematosus

    Författare :Sara E Löfgren; Ulf Gyllensten; Jan Hillert; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; autoimmunity; systemic lupus erythematosus; genetic association; single nucleotide polymorphism; IRF5; CD226; miR-146a; Medical Science; Medicinsk vetenskap; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Systemic lupus erythematosus (SLE) is a chronic and complex autoimmune disorder characterized by a failure in the mechanism of self-tolerance and production of autoantibodies, potentially affecting any organ in the body. The genetic factors behind the disease have been extensively studied in the past years and to date a list of more than 30 loci have been associated with SLE. LÄS MER

  3. 7. Effect of genetic polymorphisms on urinary bladder neoplasms

    Författare :Somali Sanyal; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :urinary bladder neoplasms; polymorphisms; metabolism; DNA repair; cell-cycle regulation;

    Sammanfattning : Urinary bladder neoplasms (UBNs) are among the most common malignancies in the world and are mainly attributed to exogenous risk factors such as, smoking, exposure to industrial aromatic amines and certain medicinal drugs which cause DNA damage. The entire process leading to DNA damage and subsequent repair of the damage involves a plethora of enzymes including those involved in metabolic and DNA repair processes. LÄS MER

  4. 8. Genetic variation in the folate receptor-alpha and methylenetetrahydrofolate reductase genes as determinants of plasma homocysteine concentrations

    Författare :Anna Böttiger; Torbjörn Nilsson; Henrik Zetterberg; Örebro universitet; []
    Nyckelord :LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; Folate receptor-alpha; Folate; FOLR1; Haplotypes; Homocysteine; Methylenetetrahydrofolate reductase; MTHFR; Polymorphisms; Pyrosequencing®; SSCP; Medicine; Medicin; Biomedicin; Biomedicine;

    Sammanfattning : Elevated total plasma homocysteine (tHcy) is a risk factor for cardiovascular disease and neurocognitive disease such as dementia. The B vitamins folate and B12 are the main de terminants of tHcy. tHcy concentration can also be affected by mutations in genes coding for receptors, enzymes and transporters important in the metabolism of Hcy. LÄS MER

  5. 9. Plant foods, plasma enterolactone and breast cancer - with a focus on estrogen receptor status and genetic variation

    Författare :Emily Sonestedt; Diabetes - kardiovaskulär sjukdom; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; plant foods; breast cancer; fibre; epidemiology; lignans; enterolactone; plasma; estrogen receptor α; estrogen receptor β; polymorphisms; reliability; nutrition; prospective;

    Sammanfattning : Diets high in fibre have previously been associated with decreased risk of breast cancer in the Malmö Diet and Cancer cohort. Several potent compounds may exist in high-fibre diets that might protect against breast cancer, for example lignans. LÄS MER

  7. 10. Alcohol Consumption among Adolescents : Psychosocial and Genetic influences

    Författare :Erika Comasco; Kent W. Nilsson; Lars Oreland; Rainer Spanagel; Uppsala universitet; []
    Nyckelord :adolescents; alcohol; biomarkers; depression; drinking motives; FAEE; gene environment interaction; interview; OPRM1; PER2; PEth; questionnaire; sleep; Neuroscience; Neurovetenskap;

    Sammanfattning : The present thesis is based on four studies focusing on alcohol consumption among Swedish adolescents, and therewith related psychosocial and genetic factors. One main objective was to study the reasons for drinking alcohol among different population - representative samples of adolescents in order to identify motives for drinking. LÄS MER